Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
The NF1 gene mutations and co-mutations in lung adenocarcinomas with brain metastasis.
Kahraman-Cetin N et al.
Indian Journal of Pathology & Microbiology, 2025
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.
Horti-Oravecz K et al.
Npj Genomic Medicine, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.
Tam B et al.
International Journal of Molecular Sciences, 2024
Germline DNA damage response gene mutations as predictive biomarkers of immune checkpoint inhibitor efficacy.
Dennis MJ et al.
Frontiers in Immunology, 2024
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
Houlleberghs H et al.
Journal of Medical Genetics, 2020
Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes.
Tian W et al.
International Journal of Cancer, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb D et al.
Nature Communications, 2016
Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis.
Haraldsdottir S et al.
Familial Cancer, 2016
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
Haraldsdottir S et al.
Gastroenterology, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
Ramsoekh D et al.
Gut, 2008